As a parent, there is nothing more heartbreaking than sensing that something about your little one’s health or development doesn’t feel quite right. When your toddler shows signs that don’t quite match typical milestones (for example, unusual flexibility, frequent bruising, or persistent pain), it’s natural to feel fearful and overwhelmed. You may worry about what these signs mean and wonder if your child could have a medical condition like Ehlers-Danlos Syndrome (EDS).
Early diagnosis of Ehlers-Danlos Syndrome is vital to safeguard the health of the child and start effective management techniques to improve the overall quality of life. In this article, we shall examine all aspects of paediatric Ehlers-Danlos syndrome and discuss the methods being utilised to diagnose this disorder in young children.
Ehlers-Danlos Syndrome (EDS) is named after the two doctors, Ehlers and Danlos, who first described the condition. It refers to a group of inherited disorders that affect the body’s connective tissues, such as the skin, joints, tendons, ligaments, blood vessels, and even cartilage and bone. Connective tissues play such a big role in supporting and holding the body together.
In young children with EDS, these tissues are formed or behave differently due to mutations in certain genes passed down through families. Because connective tissue is involved in so many systems, EDS can have wide-ranging effects on a child’s growth, mobility, and day-to-day function.
There are thirteen types of EDS, based on the part of the body that’s affected and the resultant symptoms.
This is the most common type of EDS. Kids with hEDS usually have highly flexible and painful joints and soft, velvety skin that bruises easily.
This is yet another commonly seen type of EDS. Kids with cEDS have developmental issues, along with highly stretchable skin, loose joints, and heart issues like mitral valve prolapse.
This is a rare type caused by mutations in the TNXB gene that’s responsible for producing a protein called tenascin-X. This protein helps in maintaining the structure and function of connective tissues.
This is one of the most severe types of EDS, as it can lead to the rupture of blood vessels or organs. Kids with vEDS often have distinct facial features like prominent eyes, a thin nose and upper lip, and hollow cheeks.
cvEDS is caused by a mutation in the COL1A2 gene and usually causes severe heart valve problems.
aEDS is also an uncommon type of EDS, and in kids, this causes issues like frequent joint dislocations, low muscle tone, joint hypermobility, skin hyperelasticity, etc.
This is an ultra-rare type, and it primarily causes extremely fragile skin.
This is a severe form of EDS, and toddlers with kEDS will have delayed motor development along with issues like curvature of the spine, which gives them a hunched look.
BCS is an extremely rare form of EDS that causes the child’s corneas to be thin and fragile.
This incredibly rare EDS type causes bowed limbs, muscle hypotonia and short stature. It is caused by mutations in the B3GALT6, B4GALT7 and SLC39A13 genes.
Yet another rare EDS type, mcEDS, occurs due to variations in the CHST14 gene. It manifests as abnormal facial features, feet and ankle deformities, etc.
Kids with mEDS have delayed gross motor development, muscle weakness, joint hypermobility, etc.
Symptoms of pEDS are often seen in early childhood. Gum disease is the earliest indicator, and it often leads to the premature loss of teeth.
Here are some of the typical EDS symptoms in toddlers:
● Highly flexible joints, a condition termed hypermobility, whereby the joints feel extremely loose and stretchable.
● Thin and soft skin that can be stretched more than usual.
● Easily bruised skin.
● Muscle weakness.
● Recurring muscle or joint pain.
● Unusually shaped palate (roof of the mouth) with crowded teeth.
● Fatigue.
● Unusually long healing time for wounds.
● Flat feet.
● Delayed motor skills.
● Short stature.
● Distinctly unusual facial features.
As there are different types of EDS, symptoms can vary widely, and a child may not show all of them.
Ehlers-Danlos Syndrome is caused by genetic mutations that affect how the body produces collagen, a key part of connective tissue. Over 20 different mutations have been linked to EDS. However, in some cases, the exact mutation may not be identified, even though the condition is present.
Often, EDS is inherited from one or both parents who may carry the mutated genes. However, in a few cases, these genetic mutations may spontaneously occur in kids with no family history of this disease.
EDS is a serious health concern, and it can cause a wide range of complications in young children. Dislocations, musculoskeletal disorders, growth and developmental issues, delayed motor skills, cardiovascular issues, organ rupture and prolapse, etc., are some of the major complications that may arise due to EDS. The occurrence of these health issues depends on the type and severity of the EDS.
Ehlers-Danlos syndrome diagnosis in toddlers is a bit challenging. Young children may not yet have clear symptoms, and, since most toddlers are just beginning to talk, their ability to express discomfort will be limited.
If EDS is suspected, the first step in diagnosis is usually a series of physical exams that check if issues like joint hypermobility, skin elasticity, etc., are present in the child. Parents and caregivers will be asked to furnish details regarding family health history. Doctors may also recommend echocardiograms, skin biopsies and urine tests. In most cases, genetic testing for EDS will be performed to confirm the presence of mutated genes and to identify the exact type of EDS.
Once EDS has been confirmed, further tests like the Beighton scale for assessing hyperextensibility of joints, motor skill assessments, cardiovascular tests, etc., may be performed.
Unfortunately, there isn’t a cure for Ehlers-Danlos syndrome. Therefore, the main aim will be to manage the child’s symptoms and prevent any dangerous complications from arising.
Children with EDS are usually restricted from participating in contact sports. Joint pain may be managed with pain medications. Children may need extensive physical therapy, such as muscle and motor skill development exercises, posture control, and other therapeutic interventions.
Having a child diagnosed with a severe disorder like Ehlers-Danlos syndrome may feel overwhelming. Don’t be disheartened! Many children with EDS can go on to lead active, comfortable, and fulfilling lives, provided they are diagnosed early and receive the right care and support.
